gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000805 (NFE)
Genomes Max Group AF
0.00001974 (NFE)
Exomes Max Group AF
0.00000577 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129492450A>C , CM000668.2:g.129492450A>C | GRCh38 |
| NC_000006.11:g.129813595A>C , CM000668.1:g.129813595A>C | GRCh37 |
| NC_000006.10:g.129855288A>C | NCBI36 |
| NG_008678.1:g.614310A>C , LRG_409:g.614310A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.276A>C | ENSP00000510626.1:p.Pro92= | |
| ENST00000498257.6:c.276A>C | ENSP00000510533.1:p.Pro92= | |
| ENST00000617695.5:c.8199A>C | ENSP00000481744.2:p.Pro2733= | |
| ENST00000618192.5:c.8475A>C | ENSP00000480802.2:p.Pro2825= | |
| ENST00000688198.1:n.1189A>C | ||
| ENST00000688799.1:c.276A>C | ENSP00000508458.1:p.Pro92= | |
| ENST00000690858.1:n.1205A>C | ||
| ENST00000421865.3:c.8211A>C MANE Select | ENSP00000400365.2:p.Pro2737= | |
| ENST00000421865.2:c.8211A>C | ENSP00000400365.2:p.Pro2737= | |
| ENST00000494137.1:n.373A>C | ||
| ENST00000498257.5:n.524A>C | ||
| ENST00000617695.4:c.8199A>C | ENSP00000481744.1:p.Pro2733= | |
| ENST00000618192.4:c.8208A>C | ENSP00000480802.1:p.Pro2736= | |
| NM_000426.3:c.8211A>C , LRG_409t1:c.8211A>C | NP_000417.2:p.Pro2737= | |
| NM_001079823.1:c.8199A>C | NP_001073291.1:p.Pro2733= | |
| XM_005266981.2:c.8475A>C | XP_005267038.1:p.Pro2825= | |
| XM_005266982.2:c.8463A>C | XP_005267039.1:p.Pro2821= | |
| XM_011535820.1:c.8469A>C | XP_011534122.1:p.Pro2823= | |
| XM_005266981.3:c.8475A>C | XP_005267038.1:p.Pro2825= | |
| XM_005266982.3:c.8463A>C | XP_005267039.1:p.Pro2821= | |
| XM_011535820.2:c.8469A>C | XP_011534122.1:p.Pro2823= | |
| XM_017010851.2:c.8481A>C | XP_016866340.1:p.Pro2827= | |
| XM_017010852.1:c.6606A>C | XP_016866341.1:p.Pro2202= | |
| NM_000426.4:c.8211A>C MANE Select | NP_000417.3:p.Pro2737= | |
| NM_001079823.2:c.8199A>C | NP_001073291.2:p.Pro2733= |